| Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene. | |
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MedLine Citation:
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PMID: 21910811 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Rachmiel M, Rubio-Cabezas O, Ellard S, Hattersley AT, Perlman K. Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene. We describe a case of neonatal diabetes due to a homozygous mutation (c.3 G>T) at the INS gene, leading to lack of insulin expression and severe hyperglycemia from day one of life requiring permanent insulin replacement therapy. The genetic loss of endogenous insulin production likely led to lack of immune tolerance to insulin, with resultant autoantibody production against exogenous insulin and progressive immune-mediated lipoatrophy at injection sites. |
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Authors:
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Marianna Rachmiel; Oscar Rubio-Cabezas; Sian Ellard; Andrew T Hattersley; Kusiel Perlman |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-9-13 |
Journal Detail:
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Title: Pediatric diabetes Volume: - ISSN: 1399-5448 ISO Abbreviation: - Publication Date: 2011 Sep |
Date Detail:
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Created Date: 2011-9-13 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100939345 Medline TA: Pediatr Diabetes Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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© 2011 John Wiley & Sons A/S. |
Affiliation:
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Department of Pediatrics, Assaf Harofeh Medical Center, Zerifin (affiliated to Sackler Faculty of Medicine, Tel Aviv University), Israel Division of Endocrinology, Hospital for Sick Children, Toronto, Canada Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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